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Page 1
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE. Basehore MJ, et al. Among authors: mcgee s. Clin Genet. 2015 May;87(5):461-6. doi: 10.1111/cge.12420. Epub 2014 May 30. Clin Genet. 2015. PMID: 24805811 Review.
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
Friez MJ, Brooks SS, Stevenson RE, Field M, Basehore MJ, Adès LC, Sebold C, McGee S, Saxon S, Skinner C, Craig ME, Murray L, Simensen RJ, Yap YY, Shaw MA, Gardner A, Corbett M, Kumar R, Bosshard M, van Loon B, Tarpey PS, Abidi F, Gecz J, Schwartz CE. Friez MJ, et al. Among authors: mcgee s. BMJ Open. 2016 Apr 29;6(4):e009537. doi: 10.1136/bmjopen-2015-009537. BMJ Open. 2016. PMID: 27130160 Free PMC article.
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Radenkovic S, Fitzpatrick-Schmidt T, Byeon SK, Madugundu AK, Saraswat M, Lichty A, Wong SYW, McGee S, Kubiak K, Ligezka A, Ranatunga W, Zhang Y, Wood T, Friez MJ, Clarkson K, Pandey A, Jones JR, Morava E. Radenkovic S, et al. Among authors: mcgee s. Mol Genet Metab. 2021 Jan;132(1):27-37. doi: 10.1016/j.ymgme.2020.10.007. Epub 2020 Oct 17. Mol Genet Metab. 2021. PMID: 33129689 Free PMC article.
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
Ziegler A, Koval-Burt C, Kay DM, Suchy SF, Begtrup A, Langley KG, Hernan R, Amendola LM, Boyd BM, Bradley J, Brandt T, Cohen LL, Coffey AJ, Devaney JM, Dygulska B, Friedman B, Fuleihan RL, Gyimah A, Hahn S, Hofherr S, Hruska KS, Hu Z, Jeanne M, Jin G, Johnson DA, Kavus H, Leibel RL, Lobritto SJ, McGee S, Milner JD, McWalter K, Monaghan KG, Orange JS, Pimentel Soler N, Quevedo Y, Ratner S, Retterer K, Shah A, Shapiro N, Sicko RJ, Silver ES, Strom S, Torene RI, Williams O, Ustach VD, Wynn J, Taft RJ, Kruszka P, Caggana M, Chung WK. Ziegler A, et al. Among authors: mcgee s. JAMA. 2024 Oct 24:e2419662. doi: 10.1001/jama.2024.19662. Online ahead of print. JAMA. 2024. PMID: 39446378
Quasi-periodic X-ray eruptions years after a nearby tidal disruption event.
Nicholl M, Pasham DR, Mummery A, Guolo M, Gendreau K, Dewangan GC, Ferrara EC, Remillard R, Bonnerot C, Chakraborty J, Hajela A, Dhillon VS, Gillan AF, Greenwood J, Huber ME, Janiuk A, Salvesen G, van Velzen S, Aamer A, Alexander KD, Angus CR, Arzoumanian Z, Auchettl K, Berger E, de Boer T, Cendes Y, Chambers KC, Chen TW, Chornock R, Fulton MD, Gao H, Gillanders JH, Gomez S, Gompertz BP, Fabian AC, Herman J, Ingram A, Kara E, Laskar T, Lawrence A, Lin CC, Lowe TB, Magnier EA, Margutti R, McGee SL, Minguez P, Moore T, Nathan E, Oates SR, Patra KC, Ramsden P, Ravi V, Ridley EJ, Sheng X, Smartt SJ, Smith KW, Srivastav S, Stein R, Stevance HF, Turner SGD, Wainscoat RJ, Weston J, Wevers T, Young DR. Nicholl M, et al. Among authors: mcgee sl. Nature. 2024 Oct;634(8035):804-808. doi: 10.1038/s41586-024-08023-6. Epub 2024 Oct 9. Nature. 2024. PMID: 39385028 Free PMC article.
520 results